Canonical Allele Identifier: CA8064006

Gene: GNAO1

Linked Data

• dbSNP Id: rs748242801
• ExAC: 16:56385478 G / GAA
• gnomAD v2: 16-56385478-G-GAA
• MyVariant Identifiers: chr16:g.56385478_56385479insAA (hg19) ; chr16:g.56351566_56351567insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351567_56351568dup , CM000678.2:g.56351567_56351568dup	GRCh38
NC_000016.9:g.56385479_56385480dup , CM000678.1:g.56385479_56385480dup	GRCh37
NC_000016.8:g.54942980_54942981dup	NCBI36
NG_042800.1:g.165229_165230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.877+30_877+31dup MANE Select	ENSP00000262493.6:n.877+30_877+31dup
ENST00000562316.6:c.544+30_544+31dup	ENSP00000457238.2:n.544+30_544+31dup
ENST00000564727.2:c.181+30_181+31dup	ENSP00000454971.2:n.181+30_181+31dup
ENST00000568375.2:c.116-3299_116-3298dup
ENST00000638185.1:n.1092+30_1092+31dup
ENST00000638210.1:n.1177+30_1177+31dup
ENST00000638705.1:c.877+30_877+31dup	ENSP00000491223.1:n.877+30_877+31dup
ENST00000638836.1:n.787+30_787+31dup
ENST00000639055.1:n.1598+30_1598+31dup
ENST00000639251.1:n.778+30_778+31dup
ENST00000639268.1:c.512+30_512+31dup
ENST00000639341.1:c.402+30_402+31dup
ENST00000639770.1:c.915+30_915+31dup	ENSP00000491999.1:n.915+30_915+31dup
ENST00000640390.1:n.807+30_807+31dup
ENST00000640469.1:c.241+30_241+31dup	ENSP00000491875.1:n.241+30_241+31dup
ENST00000640560.1:n.653+30_653+31dup
ENST00000640893.1:c.*275+30_*275+31dup	ENSP00000492677.1:n.*275+30_*275+31dup
ENST00000262493.10:c.877+30_877+31dup	ENSP00000262493.6:n.877+30_877+31dup
ENST00000564727.1:c.97+30_97+31dup	ENSP00000454971.1:n.97+30_97+31dup
ENST00000568375.1:n.116-3299_116-3298dup
NM_020988.2:c.877+30_877+31dup	NP_066268.1:n.877+30_877+31dup
XM_011523003.1:c.751+30_751+31dup	XP_011521305.1:n.751+30_751+31dup
XM_011523003.3:c.751+30_751+31dup	XP_011521305.1:n.751+30_751+31dup
NM_020988.3:c.877+30_877+31dup MANE Select	NP_066268.1:n.877+30_877+31dup